Variant report

Variant	rs594484
Chromosome Location	chr11:74235926-74235927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74230810..74233287-chr11:74234673..74236341,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10793090	0.83[AFR][1000 genomes]
rs10899003	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12787242	0.81[AFR][1000 genomes]
rs1280207	0.81[ASW][hapmap];0.84[MKK][hapmap];0.92[YRI][hapmap]
rs1303475	0.88[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs1315196	0.87[ASN][1000 genomes]
rs1315212	0.87[ASW][hapmap];0.84[LWK][hapmap];0.84[MKK][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs1315214	0.81[AFR][1000 genomes]
rs1315218	0.81[AFR][1000 genomes]
rs1316182	0.93[ASW][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs1610546	0.81[AFR][1000 genomes]
rs1612802	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1616179	0.81[AFR][1000 genomes]
rs1617788	0.80[AFR][1000 genomes]
rs1617968	0.83[AFR][1000 genomes]
rs1655469	0.85[AFR][1000 genomes]
rs1655479	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1783196	0.85[AFR][1000 genomes]
rs1783197	0.83[AFR][1000 genomes]
rs1785608	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1791491	0.81[AFR][1000 genomes]
rs1791492	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2509562	0.93[ASW][hapmap];0.87[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs2509563	0.93[ASW][hapmap];0.87[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2570616	0.85[AFR][1000 genomes]
rs594143	0.85[AFR][1000 genomes]
rs598395	0.81[AFR][1000 genomes]
rs598525	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs598926	0.85[AFR][1000 genomes]
rs602500	0.81[AFR][1000 genomes]
rs616403	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs641213	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs645541	0.93[ASW][hapmap];0.87[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs647824	0.81[LWK][hapmap];0.96[YRI][hapmap]
rs648677	0.93[ASW][hapmap];0.87[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs659581	0.93[ASW][hapmap];0.87[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs660855	0.93[ASW][hapmap];0.87[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs661781	0.93[ASW][hapmap];0.87[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs663016	0.93[ASW][hapmap];0.87[MKK][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs663555	0.93[ASW][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap]
rs673781	0.92[YRI][hapmap]
rs674306	0.93[ASW][hapmap];0.87[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs674660	0.81[AFR][1000 genomes]
rs675086	0.93[ASW][hapmap];0.87[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap]
rs675580	0.81[AFR][1000 genomes]
rs676537	0.93[ASW][hapmap];0.87[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs677491	0.85[AFR][1000 genomes]
rs679050	0.82[MEX][hapmap]
rs9787964	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv832209	chr11:74155883-74329119	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs594484	ANO1	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74232200-74244400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:74234600-74236200	Enhancers	Stomach Mucosa	stomach
3	chr11:74235200-74236000	Enhancers	Fetal Intestine Small	intestine
4	chr11:74235400-74236000	Enhancers	Left Ventricle	heart
5	chr11:74235400-74236000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon

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